Beckwith Weidemann syndrome: a behavioral phenotype-genotype study

Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1295-7. doi: 10.1002/ajmg.b.30729.

Abstract

Neurobehavioral defects have been reported in human imprinting disorders such as Prader-Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neurodevelopment processes. Beckwith-Wiedemann syndrome (BWS) is a classical human imprinting disorder characterized by prenatal and postnatal overgrowth and variable developmental anomalies. As neurodevelopmental aspects of BWS have not previously been studied in detail, we undertook a questionnaire based neurobehavioral survey of 87 children with BWS. A greater than expected proportion of children demonstrated abnormal scores on measures of emotional and behavioral difficulties. In addition, 6.8% of children had been diagnosed with an autistic spectrum disorder (ASD). 4/6 BWS children with ASD had normal chromosomes and ASD occurred in children with UPD and imprinting center 2 defects. These findings suggest a potential role for the 11p15.5 imprinted gene cluster in ASD and indicate a need for further investigations of neurobehavioral phenotypes in BWS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Affective Symptoms / genetics
  • Autistic Disorder / genetics
  • Beckwith-Wiedemann Syndrome / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11*
  • Data Collection
  • Female
  • Genomic Imprinting*
  • Genotype
  • Humans
  • Male
  • Mental Disorders / genetics
  • Phenotype
  • Surveys and Questionnaires